A group of more than 40 EU lawmakers backed the idea of an EU action plan for rare diseases, in a letter addressed to European Commission President Ursula von der Leyen and seen by EURACTIV.

The letter was sent to the EU executive on Tuesday (28 February), Rare Disease Day, and highlights the need to address the common challenges faced by people living with a rare disease. It is estimated that there are 300 million rare disease patients in the world, 30 million of which are in Europe.

Some of the issues experienced by rare disease patients include delayed diagnosis, lack of access to transformative treatments, and inequality in access to medicines across the EU member states.

“It has been 14 years since the last comprehensive EU strategy on addressing rare diseases. The lack of joined-up action since then has meant that progress for people living with a rare condition in the EU has been disjointed, insufficient, and geographically uneven,” said Belgian liberal MEP Frédérique Ries, the lead signatory of the letter, in a written statement.

A 2022 survey made by the EU rare disease patient association EURORDIS showed that the average time for accurate diagnosis of a rare disease in Europe is about five years.

“A strategy that holistically and completely addresses people’s needs, which also includes measurable goals, would make sure all member states work in the same direction and allow the EU to become the international exemplar of how to achieve equity for the rare disease community”, commented Yann Le Cam, CEO of EURORDIS.

Lawmakers stressed that the EU maintains a high added value in addressing the needs of people living with a rare disease but still lacks ‘an updated cohesive strategy’ on that.

According to the signatories of the letter, the upcoming revision of the general pharmaceutical legislation – and particularly the part dealing with orphan drugs which are meant to address unmet needs and rare diseases – “will offer the opportunity to tackle some of the identified shortcomings and needs.”

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After several delays, the EU executive is expected to unveil its reform of the pharmaceutical strategy on 29 March.

Contacted by EURACTIV, a Commission spokesperson said that, while there is still a long way ahead on this dossier, “this reform is a crucial step in our collective effort to pave the way towards a healthier, more resilient, and more equal Europe”.

According to the spokesperson, the reform seeks to provide equal access to affordable medications, necessary for stronger incentives for innovation, and to keep the EU’s pharmaceutical sector competitive, as well as address market deficiencies related to unmet medical needs.

A broader strategy on rare diseases was already part of the recommendations of the Rare 2030, a two-year Foresight Study presented in 2021, initiated by the European Parliament and funded by the European Commission.

The idea of a European action plan for rare diseases has already gathered the support of 21 member states which endorsed a call to action under the Czech Presidency of the EU Council in the latter half of 2022.

Czech presidency commits to follow up on EU rare diseases action plan

The Czech Presidency of the EU Council said it will cooperate with forthcoming Council presidencies to create an EU action plan for rare diseases.